Global Variome shared LOVD

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Phenotype #0000357306 Individual ID 00472496 Associated disease BTHLM2 Phenotype details Elevated circulating creatine kinase concentration, Orofacial cleft, Myopathy, Intellectual disability, mild, Myalgia, Atypical behavior Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2026-02-20 11:59:12 +01:00 (CET) Date last edited 2026-02-23 09:48:37 +01:00 (CET)

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